遺伝性乳がん (ATM/CHEK2)

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NC_000022.11:g.(?_28694022)_(28734731_?)del	CHEK2	Pathogenic	22	29090010	29130719	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687887)_(28719495_?)del	CHEK2	Pathogenic	22	29083875	29115483	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.319+1G>T	CHEK2	Likely pathogenic	22	29130390	29130390	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.320-3970_454del	CHEK2	Pathogenic	22	29121103	29125325	GGACCCACTTCCTAAAATAGAGAACATTTTGTTTCAGACTTTGAATAGCAGAGATTTATAGTGGGAAAATATCTAAAAACAATGACCAAATTACCAGCTCTCCTAGATACATGGGTATTCATTACCTACCCTGAAAATCCGAAAGTGTTTCTTGCTGTATGTTCGGTATTTATCTGTTCTTTTCAGCAGTGGTTCATCAAAGCAATATTCACAGCTTTTGTCCCTCCCAAACCAGTAGTTGTCATTCACACATTCTGTAATATAAAAGCATGCATCAGAGGGCTGTTGAATTTCATGTATCAAACGTTTAAAAATTGCTCATAAATGCTAATTGTAGGAAAATAGCCTAAGAAGGCAATCAGAATTATCAATCTGCTTATCAAGATTTTACAAGATTAAAAATTAGGAGAGAAAAAACAACATTACCAATGAGTTTAACAAATGGCAGTTTATCTATAACCACATGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCCCTTTGGAAGGCTAAGGCAGGAGGATCACTTGACCCCAGGAGCTCATGACCAGCCTGGGCAACATAGGGGGCACCCATCTCTACCAAGAATTTAAAAATTAGTCTGGGCAACATGGTGAAACCCTATCTCTACAAAAAATAAAAAATCAGCAGGGTGTGGTGGTGGGTCCCTGTGGTCTCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTGAGACTGCGCCACTGCACACTAGCCTGGGCGACAGAGTGAGACCCAGTTTCAAAAAAAAAAAAATGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGAATGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGTTACTCGGGAAGCTGAGGCAGAGAATTGCTTGAACCTGGGAGGTGGAGGATGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGACGACAAAGCAAGACTCTGTCTGAAAAAAAACAAAAAACAATTAACCAGATGTGGTGGTGCATGCCTGTAGTCCAGCTACTCAGGAGGCTGAAGGAGGAGGATCACTTGAGCAAGATAAGCTGATGCTACAATGGGCTGTGATCCTGCCACTGTACTCCAACCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAATAAATAAACAAATATTTAATATATATTATATATTTATTTTATATTTATTATATATAATATATATAATTTGTATTTATTATACATGTTATATAAATTTATTTTATAAGTTGTCTTAAATATAATTATATATTTATACACAATATAACATATATTATATATTTATAATATAGTAATTATATCTAAATATATAATAATATATAATATATATTATAATCTATTAATATATGTATTTATATACACAAACACACACATACACATACATATATATATAAAACCGTGAAATAACAAATAGTCATTAAAAGTTCTCGAGTAATTTTTAATGACTTGGAAAATTACTTGCAATACAGTAATTTCCTGCTTATTACCTTCCTGAGGTTTTCCATGACACTTAGCATAAAATCTGCACTCTTCCTCATGGCCTACTAGATGCTCAGGGTCTGGCGTCTGCCACCATTCCAGCCCCACCTCATACCCCTCTCCCCTTGCTCATGACACCCAGCACCACTGGCCTCCTTTCACTGCCCCCAAGAATGCTGGGTTCAATCTGCCTTGTGGTCTTAGCACTTCTTCCCCAACTACACAAATGGCTCATTCCACCTTGCCTTTTGTATAACAGATACTATCTACACAACACTATCTGCCTTTAGGACTCTACTATCATCTCCCACTCAGCTTTCTTTCTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTGGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTTGTAATTTTAGTAGAGACGGGGTTTCGCCATGTTAGACAGGATGGTCTCGATCTCCTGAACTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATAACAGGCATGCGCCACCACACCCGGCCTCCCGCTCAGCTTGTTATATAAACATTACTCACCTGTTATCATAATGTTATCCTGTTTTATATCTTTTTGGGTATGGGCCACGGCTGGAAATTACCTTGCTTATTTGTATATTTTCTCCCCACCTCCCTGCATTAGAACATAACCTCCAGGAGGGCAGCTGGAGACCTCTTGTTTAACAGTACAACTCCAGCACTTGGGATATTGCACATGGCAGGTAATTAAATGTTCATTGCAAGGCAGACTAGGGAAAATACTAGCAACTCCTATCAGGAAAAGGAATAATTTCCCTAATAAATGTTAGGTTCCTATAAATCAGTGAAAACGCTAAACAGTCCAGTAGAAAAATAGGTAAAGGATATGAAAAGATAATTTACAAGAAACAGAAATACAGCTGGCTCAAACATATGAAAGGTGGCCAAGCTAACCCAATATAAGAAAATTCAGAAATCAAAAACACATTAAGATTTCATGTTTTACCTATTAGATTGGCAAAAATCCAAAAGTTTCATATCACCCTGTGCTGGCAAGAGGTATGAAAAAGCGGGTACTCTCATACATTGCCATTGGGAATATAATTTATACACACATTGTCTATAATTGTCTAGGGAGGACAATTTAGCAAGATCTATCAAAATTACATATGGGCTGGGCACGATGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGAAGGAGGATCACTTGAGCCTGAAGGTCGAGGCTGCACTAAGCTGTGGTTGCACCACTCACTCCAGAGTGAGAGTGAGACCCTATCTCTAGAAAGAAAAAGAAAATTAACAAATCCAAATTTAGTTAGTTAAAAAGATCAACAAGTTGGCAAACCTTAGACAGACTGAACAAGAAAAAAAGAGACAAGACTCAAATTACTAAAATTAGAATGAGAGAGATAATTACTACTGATCTGACAGAAATAAAAATGATTTAAAAAGAATAATTGAACAATTGTGTGACAGTATTAGATGACATAGGTGAAATGGACAAACTCCTAGAAAGATACAAACTACCAAAACTAACACAAGAAGAAACAGAAAATCTGAATATACCCATAAGAAGTGAAAAGACTGAATGATAATCCTAGCACATTGGGAGGCCAAGGCAGGCGGATTGCTTGACTTCAGGAGATTGAGACCAGCCTGTGCAACATGGCAAAATCCCGTCTCTACTAAAAACAAAACAAAAAAAAATTTAGCCAGGTGTGGTGGCGCGCCCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCACAAGAATCGTTTGAACCTGTGAGGCAGAGGCTGCAGTGAGCCAATATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCTGTCTCCAAAAAAACAAAACAAAACAAAAGACTGAATGAGTAATCAAAATATCCCTACAAAGAAAAGTGCAGTCCCAGATTGCCTCACTTTAGCTTGAGCAACATAGGGACACCCCATCTCTATCAAAATAAAAAAATTAGCCACACATGGTGGCACATGCCTGAGGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGTTGAGCCTGGGAGGTCAAGCCTGCAGTGAAACGTGATAGTGGGTAACACTCCAGCGTGGGTAAGAGTGAGACCCTGTCTCAAAAAAAAGAAAAAAGAAACACACGGCTGGCTTCATTTTAAATTCTATCAAATATGTAAAGAACTAATACCAATTATTCTCAAACTTTTCGAAGAAATTCGGAACGGAACACTGTCAACTCATCTATGAGGCCAGCATACCAAAACCAGACAGAGACATCACAGTAAAACCACAAACCAATATCCCTTGTGAATATAGATATAAAAATCCTCAACAAAACAGTAGCAAACTAAATCCAGCAACACATAAAAAAGATTACAAATGACCAAACAAGAATTAACCCAGGACGCCAGGCGCGGTGGCTCACATCTGTATTCCCAGCACTTTGGGAGGCCGAGGCGGGCGATCACGAGGTCAGGAGAT	G	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28709996)_(28710069_?)del	CHEK2	Likely pathogenic	22	29105984	29106057	na	na	criteria provided, single submitter	-
Duplication	NC_000022.10:g.(?_29099483)_(29099564_?)dup	CHEK2	Likely pathogenic	22	29099483	29099564	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28694022)_(28694127_?)del	CHEK2	Pathogenic	22	29090010	29090115	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687887)_(28696997_?)del	CHEK2	Pathogenic	22	29083875	29092985	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)	CHEK2	Pathogenic	22	29130679	29130679	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.78_85del (p.Gln27fs)	CHEK2	Pathogenic	22	29130625	29130632	TGGGACTGG	T	criteria provided, single submitter	-